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Article

A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces.

Annals of hematology - 1 Dec 2009

Kumar Ravindra, Tamhankar Parag M, Panigrahi Inusha, Dalal Ashwin, Agarwal Sarita

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Source

Identifiers

PMID: 19488752
DOI: 10.1007/s00277-009-0760-4

Genes

HBB

Variants

Provenance

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Related research

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Research trail→

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A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces.PMID 19488752Read ↗

Hb Evora [alpha 2-35, Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype.Semantic proximity Read ↗

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.Semantic proximity Read ↗

Low affinity and unstable hemoglobin variant caused by AAC-->ATC (Asn-->Ile) mutation at codon 108 of the beta-globin gene.Semantic proximity Read ↗

Hb I-Toulouse [beta 66(E10)Lys->Glu] in association with alpha-thalassemia.Semantic proximity Read ↗

Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr].Semantic proximity Read ↗

Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras [alpha 7(A5)Lys-->Asn] and HB Lisbon [alpha 23(B4)Glu-->Asp].Semantic proximity Read ↗

Novel, de novo, beta-globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.Semantic proximity Read ↗

Novel hemoglobin (Hb Grey Lynn) substitution (alpha91Leu --> Phe) affects heme interactions and alpha1beta2 contacts.Semantic proximity Read ↗

Hb Yuda or alpha 130(H13)Ala----Asp; a new alpha chain variant with low oxygen affinity.Semantic proximity Read ↗

Hemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene [α132(H15) (+T) or HBA2:C.396dup (p.Val134fs)]: A Case Report and Insight into the Pathophysiology.Semantic proximity Read ↗

Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio.Semantic proximity Read ↗

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